KEGG   DISEASE: Ehlers-Danlos syndrome (EDS)Help
Entry
H00802                      Disease                                

Name
Ehlers-Danlos syndrome (EDS), including:
EDS classical type (EDS1/2);
EDS hypermobility type (EDS3);
EDS vascular type (EDS4);
EDS kyphoscoliosis type (EDS6);
EDS arthrochalasia type (EDS7A/7B);
EDS dermatospraxis type (EDS7C);
EDS autosomal recessive cardiac valvular form (EDSCV);
EDS musculocontractural type (EDSMC);
EDS progeroid form (EDSP);
Tenascin-X deficiency (TNXD);
Brittle cornea syndrome (EDS6B);
EDS-like spondylocheiro dysplasia (SCD-EDS)
Description
Ehlers-Danlos syndrome (EDS) is an inherited heterogeneous group of connective tissue disorders, characterized by abnormal collagen synthesis, affecting skin, ligaments, joints, blood vessels and other organs. Most EDS subtypes are caused by mutations in genes encoding the fibrillar collagens type I, III and V, or in genes coding for enzymes involved in the post-translational modification of these collagens. EDS can be classified  into six major types: classical type, hypermobility type, vascular type, kyphoscoliosis type, arthrochalasia type and dermatospraxis type. Additional minor variants of EDS have been identified with molecular and biochemical abnormalities: cardiac valvular form, musculocontractural type, progeroid form, tenascin-X deficiency, Brittle cornea syndrome, and EDS-like spondylocheiro dysplasia.
Category
Inherited metabolic disease; Connective tissue disease
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Congenital disorders of development
   H00802  Ehlers-Danlos syndrome (EDS)
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q65-Q79  Congenital malformations and deformations of the musculoskeletal system
   Q79  Congenital malformations of the musculoskeletal system, not elsewhere classified
    H00802  Ehlers-Danlos syndrome (EDS)
BRITE hierarchy
Pathway
Focal adhesion
ECM-receptor interaction
Lysine degradation
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
Glycosaminoglycan biosynthesis - heparan sulfate / heparin
Gene
(EDS1/7A) COL1A1 [HSA:1277] [KO:K06236]
(EDS7B/CV) COL1A2 [HSA:1278] [KO:K06236]
(EDS3/4) COL3A1 [HSA:1281] [KO:K19720]
(EDS1/2) COL5A1 [HSA:1289] [KO:K19721]
(EDS1) COL5A2 [HSA:1290] [KO:K19721]
(EDS6) PLOD [HSA:5351] [KO:K00473]
(EDS7C) ADAMTS2 [HSA:9509] [KO:K08618]
(EDSMC) CHST14 [HSA:113189] [KO:K08105]
(EDSP1) B4GALT7 [HSA:11285] [KO:K00733]
(EDSP2) B3GALT6 [HSA:126792] [KO:K00734]
(TNXD) TNXB [HSA:7148] [KO:K06252]
(EDS6B) ZNF469 [HSA:84627]
(EDS8) C1R [HSA:715] [KO:K01330]
(EDSPD2) C1S [HSA:716] [KO:K01331]
(SCD-EDS) SLC39A13 [HSA:91252] [KO:K14719]
Other DBs
Reference
  Authors
Parapia LA, Jackson C
  Title
Ehlers-Danlos syndrome--a historical review.
  Journal
Br J Haematol 141:32-5 (2008)
DOI:10.1111/j.1365-2141.2008.06994.x
Reference
  Authors
De Paepe A, Malfait F
  Title
Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders.
  Journal
Br J Haematol 127:491-500 (2004)
DOI:10.1111/j.1365-2141.2004.05220.x
Reference
  Authors
Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N
  Title
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations.
  Journal
Am J Med Genet A 152A:1333-46 (2010)
DOI:10.1002/ajmg.a.33498
Reference
  Authors
Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafe L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S
  Title
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
  Journal
Am J Hum Genet 92:927-34 (2013)
DOI:10.1016/j.ajhg.2013.04.003
Reference
PMID:22739343 (gene)
  Authors
Reinstein E, DeLozier CD, Simon Z, Bannykh S, Rimoin DL, Curry CJ
  Title
Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.
  Journal
Eur J Hum Genet 21:233-6 (2013)
DOI:10.1038/ejhg.2012.132

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